Subglottic stenosis as an early presentation of DiGeorge Syndrome

Introduction: DiGeorge Syndrome, a microdeletion on chromosome 22q11.2, encompasses a myriad of congenital abnormalities. These often include cardiac malformations, velopharyngeal insufficiency, immune deficiency, parathyroid hypoplasia, and hypocalcemia. Although congenital defects of the larynx are quite well acknowledged in the literature, their presence and prevalence in this syndrome remain unknown. Aim: We present a case report describing an infant whose initial presentation and symptoms were not suggestive of DiGeorge Syndrome. We also discuss the prevalence of subglottic stenosis among young patients diagnosed with DiGeorge Syndrome. Case report: A two-month-old infant was admitted to the Pediatric Otolaryngology Department after difficulties with intubation and extubation during surgical repair of intestinal malrotation. Laryngoscopic examination revealed stage III subglottic stenosis. Laryngotracheoplasty with anterior costal cartilage graft was performed, followed by a series of balloon dilation procedures due to postoperative adhesions and recurrent subglottic stenosis. A comprehensive postsurgical evaluation of the patient confirmed the diagnosis of DiGeorge Syndrome. Conclusions: The presented case underscores the broad clinical presentation of DiGeorge Syndrome and emphasizes the importance of maintaining a high index of suspicion in patients demonstrating an unusual confluence of symptoms. Detailed investigation and early diagnosis can significantly contribute to appropriate management, thereby potentially improving outcomes in this patient population.